PNLDC1

Chr 6

PARN like ribonuclease domain containing exonuclease 1

Also known as: HsPNLDC1, SPGF57, Trimmer

NCBI Gene: 154197ENSG00000146453UniProt: Q8NA58

Enables poly(A)-specific ribonuclease activity. Involved in nuclear-transcribed mRNA poly(A) tail shortening; piRNA processing; and spermatogenesis. Located in endoplasmic reticulum. Implicated in spermatogenic failure 57. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpermatogenic failure 57
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.98LOEUF
pLI 0.000
Z-score 1.63
OE 0.71 (0.53–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.80Z-score
OE missense 0.87 (0.79–0.96)
261 obs / 299.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.71 (0.53–0.98)
0≤0.351.4
Missense OE?0.87 (0.79–0.96)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 27 / 37.8Missense obs/exp: 261 / 299.9Syn Z: -1.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PNLDC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients